Rhabdoid tumor predisposition syndrome

Disease Export to PDF

Name:	Rhabdoid tumor predisposition syndrome
ORPHAcode:	231108
Synonyms:	RTPS
XREF(s):	Orphanet ICD-10 OMIM OMIM
Analyte(s):	SMARCB1 SMARCA4
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)

Related Laboratories

• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• SMARCA4
• SMARCB1

Related Gene Panels

• Rhabdoid Tumor Predisposition Syndrome (2 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  SMARCB1
  SMARCA4